ClinVar Miner

Submissions for variant NM_024652.6(LRRK1):c.5387C>A (p.Pro1796His)

gnomAD frequency: 0.00542  dbSNP: rs34876840
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960070 SCV001107017 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489349 SCV002798826 likely benign Osteosclerotic metaphyseal dysplasia 2021-07-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960070 SCV004131615 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing LRRK1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000960070 SCV005216297 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003916013 SCV004737010 benign LRRK1-related disorder 2019-05-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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